New insights into the pathogenesis and therapeutics of episodic ataxia type 1.

D'Adamo MC, Hasan S, Guglielmi L, Servettini I, Cenciarini M, Catacuzzeno L, Franciolini F.

Front Cell Neurosci. 2015 Aug 19;9:317. doi: 10.3389/fncel.2015.00317. Review.

Dysregulated iron metabolism in the choroid plexus in fragile X-associated tremor/ataxia syndrome.

Ariza J, Steward C, Rueckert F, Widdison M, Coffman R, Afjei A, Noctor SC, Hagerman R, Hagerman P, Martínez-Cerdeño V.

Brain Res. 2015 Feb 19;1598:88-96. doi: 10.1016/j.brainres.2014.11.058.

Social and Cultural Elements Associated with Neurocognitive Dysfunctions in Spinocerebellar Ataxia Type 2 Patients.

Mercadillo RE, Galvez V, Díaz R, Paredes L, Velázquez-Moctezuma J, Hernandez-Castillo CR, Fernandez-Ruiz J.

Front Psychiatry. 2015 Jun 10;6:90. doi: 10.3389/fpsyt.2015.00090.

Ultra-structural hair alterations in Friedreich's ataxia: A scanning electron microscopic investigation.

Turkmenoglu FP, Kasirga UB, Celik HH.

Microsc Res Tech. 2015 Aug;78(8):731-6. doi: 10.1002/jemt.22531.

Friedreich's Ataxia (FRDA) is an extremely rare cause of autosomal recessive ataxia in Chinese Han population.

Zeng J, Wang J, Zeng S, He M, Zeng X, Zhou Y, Liu Z, Jiang H, Tang B.

J Neurol Sci. 2015 Apr 15;351(1-2):124-6. doi: 10.1016/j.jns.2015.03.002.

In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7.

Adanyeguh IM, Henry PG, Nguyen TM, Rinaldi D, Jauffret C, Valabregue R, Emir UE, Deelchand DK, Brice A, Eberly LE, Öz G, Durr A, Mochel F.

Mov Disord. 2015 Apr 15;30(5):662-70. doi: 10.1002/mds.26181.

Clinical Reasoning: A 73-year-old man with diplopia and ataxia.

Gupta HV, Samant R, Gokden M, Lee RW, Sahaya K, Virmani T.

Neurology. 2015 Sep 29;85(13):e96-100. doi: 10.1212/WNL.0000000000001975. No abstract available.

Spectrum of sleep disorders in a patient with spinocerebellar ataxia 13.

Kapoor M, Greenough G.

J Clin Sleep Med. 2015 Jan 15;11(2):177-9. doi: 10.5664/jcsm.4468.

Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.

Chen Z, Ye W, Long Z, Ding D, Peng H, Hou X, Qiu R, Xia K, Tang B, Jiang H.

PLoS One. 2015 Oct 6;10(10):e0139738. doi: 10.1371/journal.pone.0139738.

Bolivian kindred with combined spinocerebellar ataxia types 2 and 10.

Baizabal-Carvallo JF, Xia G, Botros P, Laguna J, Ashizawa T, Jankovic J.

Acta Neurol Scand. 2015 Aug;132(2):139-42. doi: 10.1111/ane.12371.

Ataxia.

Akbar U, Ashizawa T.

Neurol Clin. 2015 Feb;33(1):225-48. doi: 10.1016/j.ncl.2014.09.004. Review.

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.

Aoyagi K, Rossignol E, Hamdan FF, Mulcahy B, Xie L, Nagamatsu S, Rouleau GA, Zhen M, Michaud JL.

Hum Mutat. 2015 Aug;36(8):753-7. doi: 10.1002/humu.22797.

[Clinical and genetic study of a family affected with spinocerebellar ataxia 3 and polycystic kidney disease].

Li H, Zhang L, Chen T, Yang D, Zhu Y, Wang L.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):60-3. doi: 10.3760/cma.j.issn.1003-9406.2015.01.013. Chinese.

A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia.

Bourassa CV, Raskin S, Serafini S, Teive HA, Dion PA, Rouleau GA.

JAMA Neurol. 2015 Aug;72(8):942-3. doi: 10.1001/jamaneurol.2015.0888. No abstract available.

Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia.

Sen S, Keough K, Gibson J.

Neurology. 2015 Apr 14;84(15):e111-4. doi: 10.1212/WNL.0000000000001467.